Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001904013 | SCV002125964 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2023-04-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1357815). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYH11 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 527 of the MYH11 protein (p.Glu527Lys). This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV004651746 | SCV005139099 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-03-24 | criteria provided, single submitter | clinical testing | The p.E520K variant (also known as c.1558G>A), located in coding exon 12 of the MYH11 gene, results from a G to A substitution at nucleotide position 1558. The glutamic acid at codon 520 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |